Canonical Allele Identifier: CA403329781
Gene: TBXA2R HGNC NCBI

Linked Data

gnomAD v4: 19-3595706-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595706C>A , CM000681.2:g.3595706C>A GRCh38
NC_000019.9:g.3595704C>A , CM000681.1:g.3595704C>A GRCh37
NC_000019.8:g.3546704C>A NCBI36
NG_013363.1:g.16128G>T , LRG_578:g.16128G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.1014G>T MANE Select ENSP00000364336.4:p.Gln338His
ENST00000375190.8:c.1014G>T ENSP00000364336.3:p.Gln338His
ENST00000411851.3:c.983+31G>T ENSP00000393333.2:n.983+31G>T
ENST00000589966.1:c.625G>T ENSP00000468145.1:p.Ala209Ser
NM_001060.5:c.1014G>T , LRG_578t1:c.1014G>T NP_001051.1:p.Gln338His
NM_201636.2:c.983+31G>T NP_963998.2:n.983+31G>T
XM_011528214.1:c.1014G>T XP_011526516.1:p.Gln338His
XM_011528214.2:c.1014G>T XP_011526516.1:p.Gln338His
NM_001060.6:c.1014G>T MANE Select NP_001051.1:p.Gln338His
NM_201636.3:c.983+31G>T NP_963998.2:n.983+31G>T